Allele Registry

Canonical Allele Identifier: CA14394866

Gene:

Linked Data - Expert Curation

COSMIC:

COSN6661837 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr17:g.8137696A>G

GRCh37 chr17:g.8041014A>G

Linked Data - Sequence & Population

gnomAD v2:

17:8041014 A / G

gnomAD v3:

17:8137696 A / G

gnomAD v4:

chr17-8137696-A-G

Joint Max Group AF 0.43541629 (NFE)

Genomes Max Group AF 0.43541629 (NFE)

Linked Data - NCBI & NCI

dbSNP:

7221412

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137696A>G , CM000679.2:g.8137696A>G	GRCh38
NC_000017.10:g.8041014A>G , CM000679.1:g.8041014A>G	GRCh37
NC_000017.9:g.7981739A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1153A>G
XR_934203.1:n.70-1781A>G
XR_934202.2:n.414-1153A>G

Search 100 bp 5'

Search 100 bp 3'